Congenital generalized lipodystrophies--new insights into metabolic dysfunction (Q38560271)

4 September 2017

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title

Congenital generalized lipodystrophies--new insights into metabolic dysfunction (English)

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4 September 2017

Nivedita Patni

1

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PubMed ID

26239609

4 September 2017

Abhimanyu Garg

series ordinal

2

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4 September 2017

4 August 2015

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Nature Reviews Endocrinology

4 September 2017

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4 September 2017

11

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4 September 2017

522-534

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4 September 2017

9

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https://scigraph.springernature.com/pub.10.1038/nrendo.2015.123

4 September 2017

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Serum adiponectin and leptin levels in patients with lipodystrophies

31 March 2020

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Higher adiponectin levels in patients with Berardinelli-Seip congenital lipodystrophy due to seipin as compared with 1-acylglycerol-3-phosphate-o-acyltransferase-2 deficiency

31 March 2020

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Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy

31 March 2020

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A Japanese child with asymptomatic elevation of serum creatine kinase shows PTRF-CAVIN mutation matching with congenital generalized lipodystrophy type 4.

31 March 2020

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Lipodystrophies: disorders of adipose tissue biology

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Molecular mechanisms of hepatic steatosis and insulin resistance in the AGPAT2-deficient mouse model of congenital generalized lipodystrophy

31 March 2020

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Congenital generalized lipodystrophy: significance of triglyceride biosynthetic pathways

31 March 2020

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Genetic basis of congenital generalized lipodystrophy

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31 March 2020

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Prevalence of mutations in AGPAT2 among human lipodystrophies

31 March 2020

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Enzymatic activity of naturally occurring 1-acylglycerol-3-phosphate-O-acyltransferase 2 mutants associated with congenital generalized lipodystrophy

31 March 2020

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Phenotypic Heterogeneity in Body Fat Distribution in Patients with Congenital Generalized Lipodystrophy Caused by Mutations in the AGPAT2 or Seipin Genes

31 March 2020

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A regulatory role for 1-acylglycerol-3-phosphate-O-acyltransferase 2 in adipocyte differentiation

31 March 2020

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Alterations in lipid signaling underlie lipodystrophy secondary to AGPAT2 mutations

31 March 2020

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Seipin: a mysterious protein

31 March 2020

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The lipodystrophy protein seipin is found at endoplasmic reticulum lipid droplet junctions and is important for droplet morphology

31 March 2020

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Fld1p, a functional homologue of human seipin, regulates the size of lipid droplets in yeast

31 March 2020

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BSCL2/seipin regulates adipogenesis through actin cytoskeleton remodelling.

31 March 2020

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Seipin performs dissectible functions in promoting lipid droplet biogenesis and regulating droplet morphology.

31 March 2020

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Seipin oligomers can interact directly with AGPAT2 and lipin 1, physically scaffolding critical regulators of adipogenesis

31 March 2020

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Analysis of naturally occurring mutations in the human lipodystrophy protein seipin reveals multiple potential pathogenic mechanisms

31 March 2020

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The human lipodystrophy protein seipin is an ER membrane adaptor for the adipogenic PA phosphatase lipin 1.

31 March 2020

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Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy.

31 March 2020

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A new seipin-associated neurodegenerative syndrome

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Thiazolidinediones partially reverse the metabolic disturbances observed in Bscl2/seipin-deficient mice

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Molecular mechanisms underlying fasting modulated liver insulin sensitivity and metabolism in male lipodystrophic Bscl2/Seipin-deficient mice.

31 March 2020

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Adipose-specific knockout of SEIPIN/BSCL2 results in progressive lipodystrophy.

31 March 2020

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Seipin is necessary for normal brain development and spermatogenesis in addition to adipogenesis

31 March 2020

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Altered lipid metabolism in residual white adipose tissues of Bscl2 deficient mice

31 March 2020

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Seipin deficiency alters fatty acid Delta9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy

31 March 2020

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Chromosomal localization, genomic organization, and developmental expression of the murine caveolin gene family (Cav-1, -2, and -3). Cav-1 and Cav-2 genes map to a known tumor suppressor locus (6-A2/7q31).

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A critical role of cavin (polymerase I and transcript release factor) in caveolae formation and organization.

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Polymerase I and transcript release factor (PTRF) regulates adipocyte differentiation and determines adipose tissue expandability.

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Heterogeneity for congenital generalized lipodystrophy in seventeen patients from Oman.

31 March 2020

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Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instability

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Deletion of Cavin/PTRF causes global loss of caveolae, dyslipidemia, and glucose intolerance

31 March 2020

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Pleiotropic effects of cavin-1 deficiency on lipid metabolism

31 March 2020

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Divergent metabolic phenotype between two sisters with congenital generalized lipodystrophy due to double AGPAT2 homozygous mutations. a clinical, genetic and in silico study.

31 March 2020

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Genetic basis of lipodystrophies and management of metabolic complications

31 March 2020

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Human 1-acylglycerol-3-phosphate O-acyltransferase isoforms 1 and 2: biochemical characterization and inability to rescue hepatic steatosis in Agpat2(-/-) gene lipodystrophic mice.

31 March 2020

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Hepatic gluconeogenesis is enhanced by phosphatidic acid which remains uninhibited by insulin in lipodystrophic Agpat2-/- mice

31 March 2020

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Leptin reverses insulin resistance and hepatic steatosis in patients with severe lipodystrophy

31 March 2020

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Effects of leptin replacement therapy on pancreatic β-cell function in patients with lipodystrophy

31 March 2020

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Obesity, insulin resistance and free fatty acids

31 March 2020

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Buttock deformity repair for congenital generalized lipodystrophy

31 March 2020

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Inherited lipodystrophies and hypertriglyceridemia

31 March 2020

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The clinical approach to the detection of lipodystrophy - an AACE consensus statement

31 March 2020

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Diagnosis and treatment of catecholaminergic polymorphic ventricular tachycardia

31 March 2020

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Congenital lipodystrophies and dyslipidemias

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Leptin ameliorates insulin resistance and hepatic steatosis in Agpat2-/- lipodystrophic mice independent of hepatocyte leptin receptors

31 March 2020

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Angptl3 deficiency is associated with increased insulin sensitivity, lipoprotein lipase activity, and decreased serum free fatty acids

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Farnesoid X nuclear receptor ligand obeticholic acid for non-cirrhotic, non-alcoholic steatohepatitis (FLINT): a multicentre, randomised, placebo-controlled trial

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRENDO.2015.123

Clinical course of genetic diseases of the insulin receptor (type A and Rabson-Mendenhall syndromes): a 30-year prospective

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRENDO.2015.123

Natural course of neonatal progeroid syndrome

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRENDO.2015.123

Towards a mechanistic understanding of lipodystrophy and seipin functions

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12 December 2020

Radiological features in generalized lipodystrophy

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12 December 2020

Leptin levels, beta-cell function, and insulin sensitivity in families with congenital and acquired generalized lipoatropic diabetes

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12 December 2020

Peculiar distribution of adipose tissue in patients with congenital generalized lipodystrophy

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12 December 2020

Metreleptin (Myalept): a leptin analog for generalized lipodystrophy

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12 December 2020

Lipodystrophy and gigantism with associated endocrine manifestations. A new diencephalic syndrome?

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12 December 2020

Familial lipoatrophic diabetes with dominant transmission. A new syndrome.

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12 December 2020

Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 1-1975

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12 December 2020

Generalized lipodystrophy, congenital and acquired (lipoatrophy).

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12 December 2020

Neonatal progeroid (Wiedemann-Rautenstrauch) syndrome: report of five new cases and review

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12 December 2020

New syndrome manifested by mandibular hypoplasia, acroosteolysis, stiff joints and cutaneous atrophy (mandibuloacral dysplasia) in two unrelated boys

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12 December 2020

Postmortem findings in congenital generalized lipodystrophy

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The structure and functions of human lysophosphatidic acid acyltransferases

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A gene for congenital generalized lipodystrophy maps to human chromosome 9q34.

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Identifiers

DOI

10.1038/NRENDO.2015.123

1 reference

4 September 2017

0 references

1 reference

PubMed ID

26239609